Blom Maartje, Duintjer Annelotte J, Jamee Mahnaz, de Gier Melanie, Bloomfield Markéta, Klocperk Adam, Kralickova Pavlina, Karaca Neslihan E, Boyarchuk Oksana, Čižnár Peter, Jeseňák Miloš, Sharapova Svetlana, Skopovets Ekaterina, Gonzalez-Granado Luis I, Palmeri Serena, Volpi Stefano, Nalda Andrea Martin, Tello Sonia Rodriguez, Palacín Pere Soler, Abolhassani Hassan, Pulvirenti Federica, Cinicola Bianca, Wintergerst Uwe, de Bree Godelieve J, van den Berg J Merlijn, Leavis Helen L, Vermont Clementien, Dalm Virgil A S H, van Aerde Koen, Henriet Stefanie, Jolink Hetty, Potjewijd Judith, Lankester Arjan, Mukherjee Chandoshi Rhea, Berghuis Dagmar, Pac Małgorzata, Shillitoe Benjamin M J, Gennery Andrew R, van der Burg Mirjam
Department of Pediatrics, Laboratory for Pediatric Immunology, Willem- Alexander Children's Hospital, Leiden University Medical Center (LUMC), Albinusdreef 2, Leiden, ZA, 2333, the Netherlands.
Department of Immunology, Motol University Hospital and 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.
J Clin Immunol. 2025 Aug 25;45(1):125. doi: 10.1007/s10875-025-01904-z.
Patients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic lung disease. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for early detection of XLA via newborn screening (NBS). Our international multicenter survey study aimed to evaluate self-reported outcomes and parental perspectives in XLA patients to determine whether an early diagnosis is associated with better quality of life (QoL).
QoL-questionnaires included the PedsQL for children and SF-36, CVID_QOL, PADQOL-16 for adults. A new questionnaire was specifically developed for parents about an early diagnosis of XLA.
In total, 88 adult and 65 pediatric XLA patients, and 69 parents from 14 countries completed the survey. Patients with an early diagnosis reported less severe, recurrent infections and less hospitalization (p < 0.05). QoL was significantly lower in multiple health domains for pediatric and adult patients with a late diagnosis compared to the general population. Patients with an early diagnosis reported similar QoL outcomes compared to the general population. Parents showed immense support for NBS for XLA stating that an early diagnosis prevents emotional insecurity, health damage, unnecessary diagnostics and allows early access to medical care and informed family planning.
Our study has shown supportive evidence to pursue an early diagnosis of XLA from both a self-reported clinical, health related QoL and parental perspective. The main plea from patients and parents is to achieve an early diagnosis for XLA and severe B-lymphocyte deficiencies with NBS.
（X连锁）无丙种球蛋白血症（XLA）患者易患严重的反复感染，可能导致危及生命的并发症，如败血症、脑膜脑炎和慢性肺病。早期诊断和及时治疗可预防感染及继发性并发症，这凸显了通过新生儿筛查（NBS）早期检测XLA的作用。我们的国际多中心调查研究旨在评估XLA患者自我报告的结果及家长的观点，以确定早期诊断是否与更好的生活质量（QoL）相关。
生活质量问卷包括儿童版的儿童生活质量普适性量表（PedsQL）以及成人版的简明健康状况调查量表（SF-36）、常见变异型免疫缺陷病生活质量量表（CVID_QOL）、原发性抗体缺陷病生活质量量表（PADQOL-16）。还专门为家长设计了一份关于XLA早期诊断的新问卷。
来自14个国家的88名成年和65名儿科XLA患者以及69名家长完成了调查。早期诊断的患者报告的反复感染症状较轻，住院次数较少（p<0.05）。与普通人群相比，诊断较晚的儿科和成年患者在多个健康领域的生活质量显著较低。早期诊断的患者报告的生活质量结果与普通人群相似。家长对XLA的新生儿筛查表示大力支持，称早期诊断可避免情绪上的不安全感、健康损害、不必要的诊断，并能使患者尽早获得医疗护理并进行明智的计划生育。
我们的研究从自我报告的临床、与健康相关的生活质量以及家长的角度，为追求XLA的早期诊断提供了支持性证据。患者和家长的主要诉求是通过新生儿筛查对XLA和严重B淋巴细胞缺陷实现早期诊断。
